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Health Council of the Netherlands. Neonatal screening for OCTN2 deficiency. The Hague: Health Council of the Netherlands, 2024; publication no. 2024/11.

Activity: Consultancy › Academic

Description

The Health Council recommends adding the severe form of the metabolic disease OCTN2 deficiency (also known as primary carnitine deficiency) to the newborn blood spot screening programme. This will allow children with the disease to be treated before they develop serious health problems. Early treatment completely prevents these problems. This benefit outweighs the disadvantages of screening. This is the main conclusion of an advisory report sent by the council to the State Secretary of Health, Welfare and Sport.
Period1 Jul 2024
Work forHealth Council of the Netherlands
Degree of RecognitionNational

Keywords

  • octn2
  • neonatal screening
  • primary carnitine deficiency
  • newborn

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